Canonical Allele Identifier: CA16040897
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 371563
ClinVar RCV Id: RCV000411822
dbSNP Id: rs1057517370

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120670533C>T , CM000665.2:g.120670533C>T GRCh38
NC_000003.11:g.120389380C>T , CM000665.1:g.120389380C>T GRCh37
NC_000003.10:g.121872070C>T NCBI36
NG_011957.1:g.16949G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.177-1G>A MANE Select ENSP00000283871.5:n.177-1G>A
ENST00000283871.9:c.177-1G>A ENSP00000283871.5:n.177-1G>A
ENST00000466528.5:n.203-1G>A
ENST00000476082.2:c.54-1G>A ENSP00000419560.2:n.54-1G>A
ENST00000485313.5:n.285-1G>A
ENST00000488183.5:n.435-1G>A
NM_000187.3:c.177-1G>A NP_000178.2:n.177-1G>A
XM_005247412.1:c.177-1G>A XP_005247469.1:n.177-1G>A
XM_005247413.1:c.177-1G>A XP_005247470.1:n.177-1G>A
XM_005247414.3:c.177-1G>A XP_005247471.1:n.177-1G>A
XM_011512746.1:c.177-1G>A XP_011511048.1:n.177-1G>A
XM_005247412.2:c.177-1G>A XP_005247469.1:n.177-1G>A
XM_005247413.2:c.177-1G>A XP_005247470.1:n.177-1G>A
XM_005247414.5:c.177-1G>A XP_005247471.1:n.177-1G>A
XM_011512746.2:c.177-1G>A XP_011511048.1:n.177-1G>A
XM_017006277.2:c.-247-1G>A XP_016861766.1:n.-247-1G>A
NM_000187.4:c.177-1G>A MANE Select NP_000178.2:n.177-1G>A